巨大リンパ管奇形（頚部顔面病変）

Vascular anomalies, including proliferative vascular tumours and structural malformations, are largely driven by postzygotic somatic mutations that constitutively activate key signalling pathways, mainly the PI3K/AKT/mTOR and RAS/MAPK pathways. This molecular understanding has shifted clinical management from empiric interventions towards precision medicine. In this review, the interactions between somatic mosaicism, germline predispositions (e.g., PTEN hamartoma tumour syndrome), and microenvironmental risk factors in the context of lesional progression are described. We synthesized data on genotype‒phenotype correlations-such as PIK3CA mutations in lymphatic and venous malformations, KRAS/MAP2K1 mutations in arteriovenous malformations, and cerebral cavernous malformation (CCM) complex dysfunctions in cerebral cavernous anomalies-while fundamentally differentiating the mechanistic dependencies of true malformations from those of proliferative tumours. Targeted therapies, including mTOR, PI3Kα, and MEK inhibitors, have exhibited significant clinical efficacy in the treatment of pathway-specific anomalies. Despite these advances, therapeutic resistance and drug dependency persist. Future directions include the development of integrated diagnostic frameworks combining tissue biopsies with longitudinal cell-free DNA (cfDNA) monitoring, optimizing dual-pathway combination strategies, and advancing cellular models to reshape the management of vascular anomalies.

BACKGROUND: 22q11.2 deletion syndrome (22q11.2DS) may be overlooked in adults when neurological care is prompted by pyramidal, gait, or parkinsonism-mimicking presentations rather than by congenital, developmental, psychiatric, or systemic features. METHODS: We retrospectively reviewed the clinical, imaging, and genetic findings of two unrelated adults whose neurological presentations led to whole-exome sequencing-based copy-number variant (CNV) detection of 22q11.21 deletions. Orthogonal confirmation by chromosomal microarray, multiplex ligation-dependent probe amplification (MLPA), quantitative polymerase chain reaction (qPCR), fluorescence in situ hybridization (FISH), or copy-number variation sequencing (CNV-seq) was not available; therefore, the reported deletion sizes and coordinates represent WES-derived estimates. RESULTS: Patient 1 presented with progressive lower-limb weakness, a spastic unsteady gait, pyramidal signs, dysarthria, and ataxic features, together with learning difficulty, palatal abnormalities, and a maternal history of similar gait disturbance and suspected epilepsy; analysis identified a 2.67-Mb deletion at 22q11.21. Patient 2 presented with progressive limb weakness, dysarthria, parkinsonism-mimicking rigidity and slowness, bilateral basal ganglia calcification, abnormal globus pallidus MRI signals, developmental delay, psychiatric symptoms, craniofacial features, and a maternal history of similar motor and cognitive impairment; analysis identified a 2.52-Mb deletion at 22q11.21. CONCLUSION: These cases highlight diagnostic pitfalls and syndromic clues rather than establish a new mechanism. In adult neurology practice, developmental history, palatal or craniofacial abnormalities, basal ganglia calcification, psychiatric symptoms, and family history should prompt consideration of 22q11.2DS and genetic testing that is sensitive to copy-number variants.

Macrocystic lymphatic malformations are rare congenital anomalies that vary in size and morphology. Complications include airway obstruction, feeding problems, bleeding and infection. Treatment options include surgery, sclerotherapy, medication and conservative management. This case report describes a newborn girl with a large cystic neck malformation. No immediate complications occurred, and she was observed and fed via nasogastric tube. After a multidisciplinary review, a conservative approach was chosen, and the malformation regressed completely within two months.

Background/Objectives: This study aimed to expand the recognized clinical spectrum of Axillary Web Syndrome (AWS) by integrating illustrative oncologic and non-oncologic cases with a contemporary review of the evidence regarding its epidemiology, diagnosis, pathophysiology, and management. Methods: This study combines a retrospective case series of three patients diagnosed with AWS with a contemporary narrative review of the literature. The series included one patient following breast cancer surgery and two patients without oncologic history who developed AWS after repetitive upper-limb activity. Clinical presentation, ultrasonographic findings, treatment, and outcomes were analyzed. The literature review contextualized current evidence on the epidemiology, pathophysiological mechanisms, diagnostic approach, imaging assessment, differential diagnosis, and therapeutic management of AWS. Results: Three patients with AWS were identified, including one classic postoperative breast cancer case and two non-oncologic presentations following repetitive upper-limb activity. All patients presented with palpable subcutaneous cords, pain, and restricted shoulder abduction. Ultrasonography demonstrated no evidence of superficial thrombophlebitis or other structural abnormalities, supporting the exclusion of alternative diagnoses rather than confirming AWS. Conservative treatment consisting of physiotherapy, stretching exercises, and progressive shoulder mobilization resulted in symptom resolution and functional recovery in all cases. The literature review demonstrated that AWS may occur in a broader range of oncologic and non-oncologic settings than traditionally recognized, supporting the hypothesis that localized lymphovascular injury may contribute to a shared pathophysiological pathway across different clinical settings. Conclusions: AWS should be considered in the differential diagnosis of patients presenting with painful axillary cords and shoulder dysfunction, regardless of a history of breast cancer. Early clinical recognition, appropriate use of ultrasonography to exclude competing diagnoses, and timely conservative rehabilitation are essential to optimize functional recovery. These findings support a broader conceptual framework in which AWS may represent a clinical syndrome of localized lymphovascular injury rather than a complication restricted exclusively to breast cancer surgery.

Small bowel lymphangiomatosis is a rare benign lymphatic malformation with nonspecific clinical manifestations that may complicate preoperative diagnosis. We present the case of a 57-year-old male with a history of recurrent umbilical hernias who complained of abdominal pain, nausea, vomiting, and an unreducible ventral hernia, all of which suggested a small bowel obstruction. Imaging revealed a presumed strangulated hernia with bowel obstruction and abnormal thickening of various loops of small bowel. Exploratory laparotomy disclosed incarcerated and gangrenous small bowel requiring resection. Histopathologic evaluation demonstrated extensive small-bowel lymphangiomatosis with concurrent AA-dominant amyloidosis, confirmed by apple-green birefringence on polarized microscopy of a Congo red-stained sample. This case highlights a rare coexistence of lymphangiomatosis and amyloidosis and suggests a possible relationship between chronic inflammatory amyloid deposition and secondary lymphatic obstruction, which may contribute to lymphangioma formation.